MED17[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262527	NC_000011.10:g.93783896A>G	MED17	Single nucleotide variant	not provided	GBenign
Select item 2818918	NM_004268.5(MED17):c.46G>T (p.Glu16Ter)	MED17 (E16*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2754303	NM_004268.5(MED17):c.54G>A (p.Gln18=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590825	NM_004268.5(MED17):c.57C>T (p.Val19=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1547377	NM_004268.5(MED17):c.60T>C (p.His20=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590608	NM_004268.5(MED17):c.69C>A (p.Gly23=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1908161	NM_004268.5(MED17):c.70C>T (p.Leu24=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1118602	NM_004268.5(MED17):c.87G>T (p.Thr29=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698394	NM_004268.5(MED17):c.90C>T (p.Tyr30=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1099720	NM_004268.5(MED17):c.91C>T (p.Leu31=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 422880	NM_004268.5(MED17):c.98dup (p.Leu34fs)	MED17 (L34fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1150263	NM_004268.5(MED17):c.96C>T (p.Pro32=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1097435	NM_004268.5(MED17):c.96C>G (p.Pro32=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1447223	NM_004268.5(MED17):c.98C>T (p.Pro33Leu)	MED17 (P33L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966019	NM_004268.5(MED17):c.99G>C (p.Pro33=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530380	NM_004268.5(MED17):c.99G>T (p.Pro33=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1136342	NM_004268.5(MED17):c.99G>A (p.Pro33=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1958641	NM_004268.5(MED17):c.102G>C (p.Leu34=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1147011	NM_004268.5(MED17):c.102G>A (p.Leu34=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989789	NM_004268.5(MED17):c.104C>T (p.Ser35Phe)	MED17 (S35F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150646	NM_004268.5(MED17):c.111G>C (p.Ser37=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1973358	NM_004268.5(MED17):c.121G>A (p.Ala41Thr)	MED17 (A41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1552381	NM_004268.5(MED17):c.123G>A (p.Ala41=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2185210	NM_004268.5(MED17):c.124C>T (p.Arg42Cys)	MED17 (R42C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014562	NM_004268.5(MED17):c.126T>C (p.Arg42=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1530000	NM_004268.5(MED17):c.132C>T (p.Ala44=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1624244	NM_004268.5(MED17):c.136C>A (p.Arg46=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788562	NM_004268.5(MED17):c.138G>C (p.Arg46=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1513238	NM_004268.5(MED17):c.142G>C (p.Asp48His)	MED17 (D48H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554134	NM_004268.5(MED17):c.150C>T (p.Ser50=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1132708	NM_004268.5(MED17):c.156T>C (p.Gly52=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355674	NM_004268.5(MED17):c.159_162del (p.Gly54fs)	MED17 (G54fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1088483	NM_004268.5(MED17):c.165C>T (p.Ser55=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2131080	NM_004268.5(MED17):c.172G>T (p.Glu58Ter)	MED17 (E58*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2917747	NM_004268.5(MED17):c.251-18T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892494	NM_004268.5(MED17):c.251-17TC[6]	MED17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2965951	NM_004268.5(MED17):c.251-17TC[4]	MED17	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2748730	NM_004268.5(MED17):c.251-17T>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916505	NM_004268.5(MED17):c.251-14C>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962634	NM_004268.5(MED17):c.251-13T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709947	NM_004268.5(MED17):c.251-11T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805642	NM_004268.5(MED17):c.251-10C>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1576622	NM_004268.5(MED17):c.251-9T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 129602	NM_004268.5(MED17):c.251-8C>T	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2860723	NM_004268.5(MED17):c.251-5T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2313995	NM_004268.5(MED17):c.251G>T (p.Gly84Val)	MED17 (G84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2080631	NM_004268.5(MED17):c.251G>A (p.Gly84Glu)	MED17 (G84E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804959	NM_004268.5(MED17):c.255G>A (p.Val85=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945861	NM_004268.5(MED17):c.256G>A (p.Val86Ile)	MED17 (V86I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1128897	NM_004268.5(MED17):c.270T>A (p.Pro90=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015366	NM_004268.5(MED17):c.273C>T (p.Ser91=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1157185	NM_004268.5(MED17):c.282T>G (p.Pro94=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1614327	NM_004268.5(MED17):c.288C>T (p.Asp96=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029810	NM_004268.5(MED17):c.302A>G (p.Asn101Ser)	MED17 (N101S)	Single nucleotide variant (missense variant)	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly +1 more	GUncertain significance
Select item 2208804	NM_004268.5(MED17):c.314C>T (p.Ala105Val)	MED17 (A105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1144105	NM_004268.5(MED17):c.316C>T (p.Leu106=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030430	NM_004268.5(MED17):c.318G>A (p.Leu106=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120072	NM_004268.5(MED17):c.321A>G (p.Thr107=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990609	NM_004268.5(MED17):c.325A>C (p.Met109Leu)	MED17 (M109L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 975443	NM_004268.5(MED17):c.327G>A (p.Met109Ile)	MED17 (M109I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 435846	NM_004268.5(MED17):c.330T>C (p.Cys110=)	MED17	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 435849	NM_004268.5(MED17):c.337T>C (p.Tyr113His)	MED17 (Y113H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1546850	NM_004268.5(MED17):c.339T>C (p.Tyr113=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 129603	NM_004268.5(MED17):c.342T>C (p.Asp114=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 990610	NM_004268.5(MED17):c.354T>C (p.Ile118=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082383	NM_004268.5(MED17):c.357T>C (p.Val119=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751538	NM_004268.5(MED17):c.366A>G (p.Lys122=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2773241	NM_004268.5(MED17):c.372T>C (p.Phe124=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1522055	NM_004268.5(MED17):c.372T>G (p.Phe124Leu)	MED17 (F124L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1094577	NM_004268.5(MED17):c.384T>C (p.Asp128=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 211482	NM_004268.5(MED17):c.390C>G (p.Val130=)	MED17	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2081004	NM_004268.5(MED17):c.402A>C (p.Ala134=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2157631	NM_004268.5(MED17):c.403C>T (p.Leu135Phe)	MED17 (L135F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 844828	NM_004268.5(MED17):c.407del (p.Pro136fs)	MED17 (P136fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1161137	NM_004268.5(MED17):c.411A>G (p.Pro137=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042198	NM_004268.5(MED17):c.415C>T (p.Gln139Ter)	MED17 (Q139*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2899204	NM_004268.5(MED17):c.417+1G>C	MED17	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1136513	NM_004268.5(MED17):c.417+7G>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022559	NM_004268.5(MED17):c.417+8T>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670821	NM_004268.5(MED17):c.417+8T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080056	NM_004268.5(MED17):c.417+9G>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1145153	NM_004268.5(MED17):c.417+10G>T	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957795	NM_004268.5(MED17):c.417+12C>A	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2892422	NM_004268.5(MED17):c.417+15T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180562	NM_004268.5(MED17):c.417+72C>T	MED17	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1202439	NM_004268.5(MED17):c.417+245T>C	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200864	NM_004268.5(MED17):c.418-234A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196874	NM_004268.5(MED17):c.418-131A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032069	NM_004268.5(MED17):c.418-4A>G	MED17	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838705	NM_004268.5(MED17):c.418-2del	MED17	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3124990	NM_004268.5(MED17):c.428C>T (p.Thr143Met)	MED17 (T143M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 763401	NM_004268.5(MED17):c.429G>A (p.Thr143=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1082016	NM_004268.5(MED17):c.435A>G (p.Gln145=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1151333	NM_004268.5(MED17):c.436T>C (p.Leu146=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000039	NM_004268.5(MED17):c.444T>C (p.Ser148=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765559	NM_004268.5(MED17):c.447A>G (p.Lys149=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863138	NM_004268.5(MED17):c.464del (p.Gly155fs)	MED17 (G155fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2121796	NM_004268.5(MED17):c.471A>G (p.Ala157=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1070708	NM_004268.5(MED17):c.472C>T (p.Gln158Ter)	MED17 (Q158*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1571470	NM_004268.5(MED17):c.474A>G (p.Gln158=)	MED17	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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